Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in MECP2 (p. R133C) and GABBR1

CONCLUSION: We describe the developmental trajectory of an adolescent with overlapping features of Rett and Tourette syndromes, carrying MECP2 and GABBR1 variants. Future studies are essential to better characterize the genotype-phenotype correlates and optimize therapeutic strategies, to tackle the unique needs of the patient and her family.

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